Adaptive behaviour in Angelman syndrome: its profile and relationship to age (original) (raw)
Related papers
Cognitive and adaptive behavior profiles of children with Angelman syndrome
American Journal of Medical Genetics, 2004
Angelman syndrome (AS) is a neurodevelopmental disorder caused by maternal deficiency of the UBE3A gene that encodes E6-AP ubiquitinprotein ligase. Expression of the UBE3A gene from the maternal chromosome is essential to prevent AS. AS is characterized by severe mental retardation, ataxia, and a defined behavioral pattern characterized mainly by happy/sociable disposition. This study used the Bayley Scales of Infant Development and the Vineland Adaptive Behavior Scales to examine the cognitive abilities and adaptive behavior of children (n ¼ 20) with the four known molecular classes of AS, including patterns of strengths and weaknesses across adaptive behavior domains, and the relationship between adaptive behavior and overall cognitive abilities. Cognitive skills fell within the severe to profound range of mental deficiency. Differences in cognitive skills according to genetic subtype only partially supported previous research and suggest that there is overlap in abilities across genetic subtypes of AS. Adaptive behavior skills were also significantly delayed, with participants demonstrating a significant strength in socialization, and a weakness in motor skills. Strong, positive correlations emerge between cognitive ability scores and adaptive behaviors scores. These results provide further delineation of a cognitive/behavioral phenotype in AS.
Behavioral aspects of Angelman syndrome: A case control study
American Journal of Medical Genetics Part A, 2005
Angelman syndrome (AS) is a rare congenital disorder characterized by impairments in intellectual, neurological and motor functioning and a postulated behavioral profile. This study compared behavioral characteristics of 62 individuals with genetically confirmed AS and 29 individuals with presumed AS from clinical features, with a control group of young persons with intellectual disability (ID) derived from an Australian epidemiological register. Twelve behavioral items from the developmental behavior checklist (DBC) were used for this comparison. The groups were matched for chronological age, gender, and level of ID. In the AS group, significant differences were found for 10 behaviors, with poor attention span and impulsivity being less common, and overactivity/ restlessness, chewing or mouthing objects, eating non-food items, gorging food, food fads, fascination for water, hand flapping and sleep disturbance being more common. Interestingly, there was no difference in prevalence of unprovoked laughter. Comparison of the results of the genetically confirmed with the genetically unconfirmed AS cases showed no significant differences between individual behavior prevalence. These findings show that a ''behavioral phenotype'' of AS can be distinguished from others of similar level of ID, but it is different from that hitherto published. Abnormal food related behaviors, hyperactivity, fascination for water, hand flapping, and sleep disturbance should be included in a ''behavioral phenotype'' for AS. Apart from hyperactivity, ''ADHD-type'' behaviors are not more characteristic of AS than in ID generally. Therefore, the Consensus Criteria for the diagnosis of AS need to be reviewed.
Behavioral Characteristics of Individuals with Angelman Syndrome: A Comprehensive Analysis
Ijnti, 2024
angelman syndrome is a neurogenetic disorder characterized by developmental delays, social interaction challenges, seizures, and sleep disturbances. This research paper aims to analyze the behavioral characteristics of individuals with Angelman syndrome, focusing on social interaction patterns, seizure activity, and sleep issues. Using a mixed-methods approach, data were collected through surveys, interviews with caregivers, and a review of existing literature. The findings highlight the positive social engagement typical of these individuals, the significant impact of seizures on behavior, and the prevalence of sleep disturbances. This paper concludes with recommendations for interventions to support affected individuals and their families.
Behavior and neuropsychiatric manifestations in Angelman syndrome
Neuropsychiatric Disease and Treatment, 2008
Angelman syndrome has been suggested as a disease model of neurogenetic developmental condition with a specifi c behavioral phenotype. It is due to lack of expression of the UBE3A gene, an imprinted gene located on chromosome 15q. Here we review the main features of this phenotype, characterized by happy demeanor with prominent smiling, poorly specifi c laughing and general exuberance, associated with hypermotor behavior, stereotypies, and reduced behavioral adaptive skills despite proactive social contact. All these phenotypic characteristics are currently diffi cult to quantify and have been subject to some differences in interpretation. For example, prevalence of autistic disorder is still debated. Many of these features may occur in other syndromic or nonsyndromic forms of severe intellectual disability, but their combination, with particularly prominent laughter and smiling may be specifi c of Angelman syndrome. Management of problematic behaviors is primarily based on behavioral approaches, though psychoactive medication (eg, neuroleptics or antidepressants) may be required.
Phenotypic and behavioral variability within Angelman Syndrome group with UPD
Genetics and Molecular Biology, 2002
The Angelman syndrome (AS) (developmental delay, mental retardation, speech impairment, ataxia, outbursts of laughter, seizures) can result either from a 15q11-q13 deletion, or from paternal uniparental disomy (UPD), imprinting, or UBE3A mutations. We describe here the phenotypic and behavioral variability detected in eight UPD patients out of a group of 58 AS patients studied. All of them presented developmental delay, mental retardation, ataxia, speech impairment, and frequent drooling. Only one had microcephaly, whereas in two of them the OFC (head circumference) was above the 98 th percentile. The weight of all patients was above the 50 th percentile, and in three of them the height was above the 90 th percentile. Three were able to say a few words and to communicate by gestures. Two patients presented hyperphagia, and three presented skin picking, common features in the Prader-Willi syndrome (PWS). Four patients (4/7) had wide-spaced teeth. Five presented seizures, and two others did not manifest frequent laughter. One patient was very different from the others, as he showed a better understanding and abilities to communicate, to play video games and to draw. We suggest here that there seems to be an extreme phenotypic and behavioral variability within the UPD group, and that both typical patients and those with mental retardation, language impairment, happy disposition, and hyperactivity should be tested for AS.
Behavioral deficits in an Angelman syndrome model: Effects of genetic background and age
Behavioural Brain Research, 2013
Ube3a m−/p+ mice had impaired reversal learning in the Morris water maze. Deficient acquisition of spatial learning varied across background strain and age. Aberrant phenotypes included deficits in rearing, rotarod ability, and marble-burying. The C57BL/6J background conferred susceptibility to a range of abnormal behaviors.
Behavioral Interventions for Enhancing Adaptive Skills of Children with Angelman Syndrome
Angelman syndrome (AS) is a rare genetic disorder, first described by Harry Angelman in 1965 [1]. Thus, three of his patients showed severe to profound intellectual disabilities, excessive laughing, jerky movements, and abnormal physical development. Because the three participants emphasized a flat head disorder, they were called "puppet children". Their common behavior was characterized by ataxia, lack of speech, learning difficulties, seizures, tongue protrusion, and motor impairments. A new unique distinct syndrome known as AS was identified.
A Neurodevelopmental Survey of Angelman Syndrome With Genotype-Phenotype Correlations
Journal of Developmental & Behavioral Pediatrics, 2010
Objective-Angelman syndrome (AS) is a neurodevelopmental disorder caused by a deletion on chromosome 15, uniparental disomy (UPD), imprinting defect, or UBE3A mutation. It is characterized by intellectual disability with minimal speech and certain behavioral characteristics. We used standardized measures to characterize the developmental profile and to analyze genotype-phenotype correlations in AS.
Clinical and cognitive characteristics of Angelman syndrome
Specijalna edukacija i rehabilitacija, 2021
Introduction. Angelman syndrome, as a rare genetic and neurodevelopmental disorder characterized by severe intellectual deficit and falling behind in psychomotor development, represents a challenge for adequate and correct creation of individual (rehabilitation procedure. More precise determination of cognitive and speech profile is difficult due to integrative hypermotor behavior and attention and speech deficits. Objective. The aim of this paper was to analyze and summarize empirical data on clinical, cognitive and speech characteristics of Angelman syndrome. Methods. A systematic review of the literature published in peer-reviewed publications, from 2001 to June 5, 2021, was performed by searching electronic databases available through the service of the Serbian Library Consortium for Coordinated Acquisition - KOBSON. A "hand search" (Research Gate and Google Scholar) was also used. Results. The analyzed results of the research indicate that the presence of sensorimotor...
Molecular Psychiatry
Angelman Syndrome (AS) is a severe neurodevelopmental disorder due to impaired expression of UBE3A in neurons. There are several genetic mechanisms that impair UBE3A expression, but they differ in how neighboring genes on chromosome 15 at 15q11–q13 are affected. There is evidence that different genetic subtypes present with different clinical severity, but a systematic quantitative investigation is lacking. Here we analyze natural history data on a large sample of individuals with AS (n = 250, 848 assessments), including clinical scales that quantify development of motor, cognitive, and language skills (Bayley Scales of Infant Development, Third Edition; Preschool Language Scale, Fourth Edition), adaptive behavior (Vineland Adaptive Behavioral Scales, Second Edition), and AS-specific symptoms (AS Clinical Severity Scale). We found that clinical severity, as captured by these scales, differs between genetic subtypes: individuals with UBE3A pathogenic variants and imprinting defects (...